A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466758



Internal ID8493805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:16672467..16954685hg38UCSC Ensembl
Innerchr10:16714466..16996684hg19UCSC Ensembl
Innerchr10:16754472..17036690hg18UCSC Ensembl
Innerchr10:16754472..17036690hg17UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38282219
hg19282219
hg18282219
hg17282219
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542225
SamplesHGDP01370
Known GenesCUBN, RSU1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv466758
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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